Abstract：
INTRODUCTION:Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. DEVELOPMENT:We review the main treatable inborn errors of metabolism that can present as early-onset epileptic encephalopathies, together with their biochemical markers and their treatment. CONCLUSIONS:It is important to think about the possibility of an inborn error of metabolism with a specific therapy, since it is crucial for this to be started as soon as possible in order to prevent permanent neurological damage. TITLE:Abordaje metabolico en las encefalopatias epilepticas del lactante. :Introduccion. Aunque la incidencia global de los errores congenitos del metabolismo es baja, su diagnostico precoz es fundamental, ya que algunos de ellos tienen tratamiento especifico. Desarrollo. Se revisan los principales errores congenitos del metabolismo tratables que pueden cursar como encefalopatia epileptica de inicio precoz, asi como sus marcadores bioquimicos y su tratamiento. Conclusiones. Es importante pensar en la posibilidad de un error congenito del metabolismo con terapia especifica, ya que es fundamental que esta comience lo antes posible para evitar un daño neurologico permanente.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Lopez-Marin Lsubject
Has Abstractpub_date
2017-05-17 00:00:00pages
S49-S53issue
s03eissn
0210-0010issn
1576-6578pii
rn2017163journal_volume
64pub_type
杂志文章,评审abstract：INTRODUCTION AND AIMS:Chronic immune-mediated neuropathies are characterised by their being predominantly demyelinating, by being associated to specific antibodies and by their response to immunotherapy. We evaluated the clinical, electrophysiological and immunological responses following treatment with intravenous imm...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-03-16 00:00:00
abstract：AIMS:To evaluate the presence of epileptiform discharges and the organisation of nocturnal sleep of autistic children without nocturnal polysomnographic epileptic seizures. SUBJECTS AND METHODS:Cross section analysis. SUBJECTS:21 boys and girls with autistic spectrum using DSM IV criteria between the ages of 4 and 12...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-06-16 00:00:00
abstract：AIM:To assess the budget impact of the treatment for relapsing remitting multiple sclerosis (RRMS), interferons, and glatiramer acetate, from the National Health System perspective in Spain. PATIENTS AND METHODS:A budget impact model was designed to compare the cost of RRMS treatment in different settings, using a fiv...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-08-01 00:00:00
abstract：INTRODUCTION:Diagnosing Alzheimer's disease (AD) as soon as possible is critical to achieve an effective treatment of patients. AIM:To make up a test capable of differentiating those patients suffering from the early stages of AD compared to healthy people or patients with mild cognitive impairment (MCI). SUBJECTS AN...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-04-16 00:00:00
abstract：INTRODUCTION:Semi-structured questionnaires, based on clinical criteria are used in the diagnosis of headache, but none has been used to study the two commonest types of chronic headache. The first step, before clinical application, is to carry out a study of the questionnaire's validity and predictive value. OBJECTIV...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-03-01 00:00:00
abstract：:There are several syndromes in which neurological and cutaneous alterations of vascular origin, among other symptoms, occur. The key point of this fact is that these cutaneous signs permit early diagnosis, thus helping in further recognition of more complex syndromes and preventing unnecessary, harmful and costly diag...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1997-09-01 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:Preliminary studies (phase III) have shown that treatment with beta-interferon 1a (avonex) is effective in diverse aspects of relapsing/remitting multiple sclerosis (RRMS). The present study discusses results of an opened prolonged (phase IV) trial at the Baylor/Methodist International Multip...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-09-01 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:We analyze the main factors influencing the time delay between onset and admission to the hospital in acute stroke. PATIENTS AND METHODS:Consecutive series of 1,344 patients with acute stroke or transient ischemic attack admitted at two reference hospitals of Valencia and included at the sam...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-12-01 00:00:00
abstract：INTRODUCTION:SPECT, EEG AND CT scan offer information with several pathophysiologic meanings. Their results vary with time and according to the vascular affected territory. OBJECTIVE:We wanted to study how the sensibility varies and the relationship with the clinic of SPECT, qEEG and CT scan in the acute, subacute and...
journal_title：Revista de neurologia
pub_type： 临床试验,杂志文章
doi：
更新日期：1998-08-01 00:00:00
abstract：INTRODUCTION:Synthesis of IgG is useful data for the diagnosis of multiple sclerosis, and different formulas, both direct and indirect, are used to quantify this. We analyze these formulas with the objective of finding whether certain combinations of them would give better results than the individual formulas on their ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：AIMS:The purpose of this study is to collect and evaluate the experimental evidence suggesting that acetaldehyde, the first oxidative metabolite of ethyl alcohol (ethanol), plays a mediating role in the brain damage associated with the chronic consumption of this substance. DEVELOPMENT:Although the brain damage associ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-09-01 00:00:00
abstract：INTRODUCTION:Optogenetic is an experimental technique that combines genetic engineering and optical physics procedures to mark specific neurons in the brain and activate them at will through rays of light of certain frequency. AIM:To explain, to readers not versed in genetics the history, the rationale and the present...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章
doi：
更新日期：2016-02-01 00:00:00
abstract：INTRODUCTION:Addiction to drugs is a chronic illness with severe repercussions for those that consume them and to date has no known cure. Psychostimulants, such as ecstasy, are the most widely consumed illegal drugs among adolescents and young adults. AIMS:To describe and to analyse the different variables that can in...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2017-11-16 00:00:00
abstract：OBJECTIVE:To evaluate the treatment modalities used in children (ages 1-18 years) with cerebral infarction. BACKGROUND:[corrected] Cerebrovascular disease in children is more common than once suspected but its treatment has not been rigorously studied. MATERIAL AND METHODS:We reviewed all cases of cerebral infarction...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-06-01 00:00:00
abstract：INTRODUCTION:In recent years, significant advances have been made in the physiology and the pharmacology of vestibular disorders. It is now possible to elaborate an approximation of the mechanisms of action of the drugs used in the symptomatic treatment of vertigo. DEVELOPMENT:These drugs usually have a number of diff...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-08-16 00:00:00
abstract：:Studies of vision using electrophysiological techniques are tests which record functional alterations in very early phases of a disease. Full field flash ERG evaluates the integrity of the cones, rods and bipolar cells. It is obtained by photopsic stimulation with Ganzfeld and contact lens corneal electrodes or, alter...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-02-15 00:00:00
abstract：TITLE:Encefalopatia necrotizante aguda. : ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.6908.2019113
更新日期：2019-10-16 00:00:00
abstract：INTRODUCTION:Traumatic brain injury (TBI) is a common cause of death and disability in the paediatric population, although the literature on the Spanish population is scarce. From the perspective of early vulnerability, recent research findings suggest that early brain injury has worse sequelae and a higher risk of imp...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7007.2019393
更新日期：2020-04-01 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:The history of prion diseases is one of the most exciting chapters of the story of medicine in the twentieth century. It began in the nineteen twenties when Creutzfeldt (in one patient) and Jakob (in five patients) described a clinically polymorphic cerebral syndrome with a subacute or chro...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章
doi：
更新日期：2000-07-16 00:00:00
abstract：AIMS:To review the fundamentals of occupational therapy (OT) and to present its possible contributions in the field of neurological rehabilitation. DEVELOPMENT:As its name suggests, OT is a form of treatment that makes use of occupations. Furthermore, occupation is a purpose itself, since OT seeks to adapt the individ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-08-16 00:00:00
abstract：INTRODUCTION:Developmental disorders are a common pathological condition in Neuropaediatrics and do not usually present characteristic anatomical alterations in the different neuroanatomical imaging tests that can be employed, such as computerised axial tomography or magnetic resonance (MR). Positron emission tomograph...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-02-01 00:00:00
abstract：INTRODUCTION:Atherosclerosis is a generalized vascular disorder which tends to be localized to specific arterial territories. At the bifurcation of the carotid artery there is a marked predisposition to form plaques of atheroma on the postero-external wall. This tendency is due to the kinematics of fluids and their par...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1997-12-01 00:00:00
abstract：:It has been stated that findings in neonatal neurological examinations can play a role as a pointer to adverse developmental outcome. The description of the examinations, and their presence or absence differed among authors without clear reference to their physiological variability ranges. We approached the study of s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：OBJECTIVE:The atherosclerosis is the most common cause of death and disability in developed countries by causing ischemic cardiopathic and stroke. The ischemic atherotrombotic stroke is the most frequent form of the last one. In this sense we review herein the mechanisms underlying the artherosclerotic process. DEVELO...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-09-01 00:00:00
abstract：INTRODUCTION AND OBJECTIVES:Little data has been published in Spain on motor neurone disease or amyotrophic lateral sclerosis. This study reports data on incidence and mortality in Cantabria and incidence in Segovia. It discusses and compares them emphasizing certain characteristic features of the epidemiology of the d...
journal_title：Revista de neurologia
pub_type：
doi：
更新日期：1999-11-01 00:00:00
abstract：:The neurochemistry of Parkinson's disease and other degenerative parkinsonisms is reviewed, emphasizing the changes described in the dopaminergic system. Presynaptic dopaminergic markers are reduced over the striatum in all these degenerative parkinsonisms, dopamine receptor changes being more heterogeneous. While in ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1997-08-01 00:00:00
abstract：INTRODUCTION:The cognitive effects of long-term exposure to organic solvents could be similar to those triggered by certain neurodegenerative diseases. AIMS:The purpose of this study was to evaluate the effects exerted by accumulated exposure on the cognitive functions. PATIENTS AND METHODS:105 subjects with an avera...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-12-01 00:00:00
abstract：INTRODUCTION:Cognitive dysfunction in mesial temporal lobe epilepsy (MTLE) is still a controversial subject. Since refractory MTLE is considered a surgically remediable syndrome, the neuropsychological assessment to establish the presence of cognitive impairment in the surgical candidate became an important issue, give...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-12-16 00:00:00
abstract：:The most relevant data presented at the 29th Congress of the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS), held in October 2013 in Denmark, were summarised at the sixth edition of the Post-ECTRIMS Expert Meeting, held in Madrid in October 2013, resulting in this review, to be published...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2014-09-16 00:00:00
abstract：INTRODUCTION:Necrosis of the basal ganglia (NBG) is an uncommon condition in childhood. Cases of NBG have been reported in connection with metabolic disorders, infections, degenerative conditions, intoxications, head injuries and hypoxic-ischemic encephalopathies. The commonest clinical features include alteration of c...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-05-16 00:00:00
